CASK


Summary: This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location

GO terms in CASK


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Term Type
Evidence Type
GO Term ID
GO Des.
CC IDA GO:0005604 basement membrane
CC IDA GO:0005604 basement membrane
CC IDA GO:0005652 nuclear lamina
CC IDA GO:0005730 nucleolus
CC IDA GO:0005737 cytoplasm
CC TAS GO:0005829 cytosol
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Gene expression in normal tissue: CASK

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

undefined27Other, kinases1One carbon pool by folate1VEGF signaling pathway1ABL signaling1IGFR signaling1PI3K/MTOR signaling1Chromatin histone acetylation1Ferroptosis1Longevity regulating pathway1

Pathways in CASK


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Database
Pathway ID
Pathway Des.
reactome R-HSA-112310 Neurotransmitter release cycle
reactome R-HSA-112315 Transmission across Chemical Synapses
reactome R-HSA-112316 Neuronal System
reactome R-HSA-112316 Neuronal System
reactome R-HSA-1474244 Extracellular matrix organization
reactome R-HSA-1500931 Cell-Cell communication
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD211 (1S,3R)-RSL3 2
iGMDRD945 ML214 3
iGMDRD57 Chloropentafluorobenzene 1
iGMDRD116 CD437 2
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CASK

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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